Clinical trials: Whole Genome Sequencing, open to volunteers
Cancer, Cancer Gene Mutation
INTERogating Cancer for Etiology, Prevention and Therapy Navigation
This study is being done to identify markers and causes of cancer by analyzing patient's DNA (i.e., genetic material), RNA, plasma, tissues, or other samples that could be informative for patients with cancer.
- Conditions
- Cancer, Cancer Gene Mutation, PAN Gene Mutation, Hematopoietic and Lymphoid System Neoplasm
- Trial name
- INTERCEPTioN (NCT06008392)
- Testing
- Pan-genomic Testing
- Where
- 5 sites in United States
- Volunteers
- 500 people
- Sponsor
- Mayo Clinic
Hereditary Diseases, Critical Illness
UW ISeqU: Clinical Impact of Whole-genome Sequencing in Adults
The goal of this study is to learn how clinical whole genome sequencing can help identify diagnoses and guide medical care in adults.
- Trial name
- NCT07718971
- Testing
- Genome sequencing
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- University of Washington
Adverse Drug Reaction (ADR), Polypharmacy Patients
IPGx PILOT Whole Genome Sequencing Extension Cohort
The investigator's primary aim is to evaluate polypharmacy-associated adverse drug reactions (ADR) in a pilot study of at-risk patients using state-of-the-art pharmacogenomic technology and to use this information to make…
- Trial name
- NCT06766071
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Texas A&M University
Neoplastic Syndromes, Hereditary, Cancer
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
- Conditions
- Neoplastic Syndromes, Hereditary, Cancer, Genetic Predisposition to Disease
- Trial name
- PREDICT (NCT04903782)
- Testing
- Family-based whole genome sequencing
- Where
- 3 sites in Australia
- Volunteers
- 270 people
- Sponsor
- Sydney Children's Hospitals Network
Congenital Malformations
Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality
Congenital malformations result from an embryonic or foetal developmental disorder (DD) affecting one or more systems (cardiac, skeletal, nervous, etc.). These are referred to as multiple congenital anomalies (MCAs).
- Trial name
- CARTOGEN-N (NCT07370792)
- Testing
- blood sample
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Céline PEBREL-RICHARD
High Grade Serous Ovarian Cancer, Cervical Cancer Screening
Routine Shallow-coverage Whole Genome Sequencing Testing of Liquid-based Cervical Smears for the Early Diagnosis of Ovarian Cancer
High-grade serous ovarian carcinoma (HGSOC) is the deadliest gynaecological tumour. The 5-year overall survival rate for advanced-stage disease is less than 30 per cent, due to diagnosis at an advanced stage.
- Conditions
- High Grade Serous Ovarian Cancer, Cervical Cancer Screening, Whole Genome Sequencing, Genomic Instability
- Trial name
- SHALLOW ROUTE (NCT07821879)
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Institut Claudius Regaud
Cardiomyopathy, Whole Genome Sequencing
Acquirement of Clinical and Genomic Data to Diagnose in Rare Inherited Cardiomyopathy
"Background Information Cardiomyopathy is one of the leading causes of heart failure. In cases where cardiomyopathy does not respond to guideline-directed medical therapy for heart failure, the disease may progress to a stage…
- Trial name
- NCT06948344
- Where
- South Korea
- Volunteers
- 560 people
- Sponsor
- Yonsei University
Schizophrenia, Healthy (Controls)
Exploring the Genetics of Schizophrenia in Manitoba
Schizophrenia is a serious mental illness that affects about 1 in 100 Canadians, shortens life expectancy, and places a large burden on individuals, families, and the healthcare system.
- Trial name
- GENES-MB (NCT07656870)
- Where
- Canada
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- University of Manitoba
Pancreatic Cancer
Molecularly Tailored Therapy in Advanced Pancreatic Cancer
Pancreatic cancer that has spread or cannot be removed by surgery is difficult to treat. Standard chemotherapy can slow the disease, but the cancer often starts growing again.
- Trial name
- TAILOR-PANC (NCT07802418)
- Testing
- Arm 1: Molecularly Tailored Therapy, Arms 2: Standard-of-Care Therapy, Arm 3: Standard-of-Care Observational Cohort
- Where
- 4 sites in Denmark
- Volunteers
- 1,200 people
- Sponsor
- Herlev Hospital
Cardiomyopathy, Hypertrophic, Cardiomyopathy, Dilated
National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data.
- Conditions
- Cardiomyopathy, Hypertrophic, Cardiomyopathy, Dilated, Cardiomyopathy Restrictive, Arrhythmogenic Right Ventricular Dysplasia
- Trial name
- RENOMICA-Hcor (NCT06546137)
- Testing
- whole genome sequencing
- Where
- 27 sites in Brazil
- Volunteers
- 1,211 people
- Sponsor
- Hospital do Coracao
Rare Diseases
Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas
The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border.
- Trial name
- MAGNET (NCT07102966)
- Testing
- Rapid whole genome sequencing
- Where
- United States
- Volunteers
- 410 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Cystic Fibrosis (CF), Mucoviscidosis
Environmental Reservoirs of Non-tuberculous Mycobacteria in Cystic Fibrosis Households
This multicenter, non-interventional case-control study investigates whether household environmental reservoirs, particularly water systems, are associated with non-tuberculous mycobacterial (NTM) infections in people with cystic…
- Conditions
- Cystic Fibrosis (CF), Mucoviscidosis, Non-Tuberculous Mycobacteria, Mycobacterium Abscessus Infection
- Trial name
- NTMecoCF (NCT07369414)
- Testing
- Multi-modal NTM diagnostic including PCR, WGS, culture
- Where
- 2 sites in Germany
- Volunteers
- 120 people
- Sponsor
- Research Center Borstel
Bone and Soft Tissue Tumors
Molecular and Clinical Studies of Bone and Soft Tissue Tumors
The goal of this observational study is to learn whether tumors of bone and soft tissue can be sorted into groups by their genes. Today these tumors are named mainly by how they look under a microscope.
- Trial name
- NCT07822204
- Where
- Sweden
- Volunteers
- 50,000 people
- Sponsor
- Karolinska Institutet
Breast Cancer
Genomic and Transcriptomic Predictors of Sequential SG Sensitivity After T-DXd in ER+/HER2-Low Metastatic Breast Cancer
Advanced hormone positive (HR+), HER2 negative breast cancer continues to pose a challenge when patients have progressed on CDK4/6 inhibitor and endocrine therapy leaving limited treatment options.
- Trial name
- NCT06665178
- Testing
- Sacituzumab Govitecan
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- British Columbia Cancer Agency
Infant, Newborn, Disease, Genetic Disease
Genome Sequencing in the Intensive Care Unit Population
The purpose of this study is to understand how the use of whole genome sequencing (WGS) may be able to increase the speed with which a diagnosis is made for patients in an intensive care unit population.
- Trial name
- PISCES (NCT04848090)
- Testing
- Neonate WGS Testing
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Jerry Vockley, MD, PhD
Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder
Neurogenetics and Multi-omics of Neuroinflammatory Diseases in Multiplex Families to Improve Patients Health
The goal of this observational study is to learn why some families have several members with multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), or MOG antibody-associated disease (MOGAD).
- Conditions
- Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, MOG Antibody-Associated Disease, Demyelinating Autoimmune Diseases, CNS
- Trial name
- NeuroDIP (NCT07902479)
- Testing
- Blood sampling and multi-omic profiling
- Where
- 5 sites in France
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Diabetes Mellitus
Role of High-Throughput Whole Genome Sequencing for the Diagnosis and Care of Atypical Diabetes
The main objective of the study is to assess the contribution of whole genome sequencing (WGS) coupled with a multidisciplinary conciliation meeting (MCM) on diagnosis of atypical forms of diabetes compared to an in-silico…
- Trial name
- GLUCOGEN (NCT06570278)
- Testing
- WGS coupled with MCM
- Where
- 26 sites in France
- Volunteers
- 1,020 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Cancer Predisposition Syndromes, Pediatric Cancer
Questionnaire on Congenital Cancer Signs Through Self-Assessment
This clinical trial tests whether a patient- and caregiver-completed questionnaire (QUOCCAS) can accurately help identify children and adolescents with cancer who may have an underlying cancer predisposition syndrome (CPS).
- Conditions
- Cancer Predisposition Syndromes, Pediatric Cancer, Childhood Neoplasms, Hereditary Cancer Syndromes
- Trial name
- QUOCCAS (NCT07378423)
- Testing
- Pre-Visit Preparation (PVP) Brochure, QUOCCAS Questionnaire, Germline genetic sequencing for Cancer Predisposition Syndromes (CPS)
- Where
- Switzerland
- Volunteers
- 205 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Microbiota in Patients With Urinary Bladder Carcinoma in Urine and Cancer Tissues
Microbiota in Urine and Urothelium Can be a Factor for Induction of Urinary Bladder Cancer. The Study Will Examine Urine and Bladder Tissues From Egyptian Male Patients and Controls Using Whole Genomic Sequencing Techniques and 16S rRNA. The Aim is to Elucidate Role of Microbiota in Bladder Cancer.
Microbes inhabiting the urinary tract that are playing an important role in maintenance of health and the development of diseases and bladder cancer. There is correlation between initiation of bladder cancer and microbes.
- Trial name
- Cancer bladder (NCT06289270)
- Where
- 2 sites in Egypt
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Theodor Bilharz Research Institute
Developmental and Epileptic Encephalopathy, Epilepsy in Children
Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
This study focuses on children with Developmental and Epileptic Encephalopathy (DEE), a severe form of epilepsy that often has a genetic origin.
- Trial name
- EEPILOG (NCT07396883)
- Testing
- Long-read Whole Genome Sequencing (lrWGS)
- Where
- 4 sites in France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Strasbourg, France